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Article: Identification of genes from a 500-kb region at 7q11.23 that is commonly deleted in Williams syndrome patients

TitleIdentification of genes from a 500-kb region at 7q11.23 that is commonly deleted in Williams syndrome patients
Authors
Issue Date1996
PublisherAcademic Press. The Journal's web site is located at http://www.elsevier.com/locate/ygeno
Citation
Genomics, 1996, v. 36 n. 2, p. 328-336 How to Cite?
AbstractWilliams syndrome (WS) is a multisystem developmental disorder caused by the deletion of contiguous genes at 7q11.23. Hemizygosity of the elastin (ELN) gene can account for the vascular and connective tissue abnormalities observed in WS patients, but the genes that contribute to features such as infantile hypercalcemia, dysmorphic facies, and mental retardation remain to be identified. In addition, the size of the genomic interval commonly deleted in WS patients has not been established. In this study we report the characterization of a 500-kb region that was determined to be deleted in our collection of WS patients. A detailed physical map consisting of cosmid, P1 artificial chromosomes, and yeast artificial chromosomes was constructed and used for gene isolation experiments. Using the techniques of direct cDNA selection and genomic DNA sequencing, three known genes (ELN, LIMK1, and RFC2), a novel gene (WSCR1) with homology to RNA-binding proteins, a gene with homology to restin, and four other putative transcription units were identified. LIMK1 is a protein kinase with two repeats of the LIM/double zinc finger motif, and it is highly expressed in brain. RFC2 is the 40-kDa ATP- binding subunit of replication factor C, which is known to play a role in the elongation of DNA catalyzed by DNA polymerase δ and ε. LIMK1 and WSCR1 may be particularly relevant when explaining cognitive defects observed in WS patients.
Persistent Identifierhttp://hdl.handle.net/10722/44304
ISSN
2015 Impact Factor: 2.386
2015 SCImago Journal Rankings: 1.281
ISI Accession Number ID
References

 

DC FieldValueLanguage
dc.contributor.authorOsborne, LRen_HK
dc.contributor.authorMartindale, Den_HK
dc.contributor.authorScherer, SWen_HK
dc.contributor.authorShi, XMen_HK
dc.contributor.authorHuizenga, Jen_HK
dc.contributor.authorHeng, HHQen_HK
dc.contributor.authorCosta, Ten_HK
dc.contributor.authorPober, Ben_HK
dc.contributor.authorLew, Len_HK
dc.contributor.authorBrinkman, Jen_HK
dc.contributor.authorRommens, Jen_HK
dc.contributor.authorKoop, Ben_HK
dc.contributor.authorTsui, LCen_HK
dc.date.accessioned2007-09-12T03:51:02Z-
dc.date.available2007-09-12T03:51:02Z-
dc.date.issued1996en_HK
dc.identifier.citationGenomics, 1996, v. 36 n. 2, p. 328-336en_HK
dc.identifier.issn0888-7543en_HK
dc.identifier.urihttp://hdl.handle.net/10722/44304-
dc.description.abstractWilliams syndrome (WS) is a multisystem developmental disorder caused by the deletion of contiguous genes at 7q11.23. Hemizygosity of the elastin (ELN) gene can account for the vascular and connective tissue abnormalities observed in WS patients, but the genes that contribute to features such as infantile hypercalcemia, dysmorphic facies, and mental retardation remain to be identified. In addition, the size of the genomic interval commonly deleted in WS patients has not been established. In this study we report the characterization of a 500-kb region that was determined to be deleted in our collection of WS patients. A detailed physical map consisting of cosmid, P1 artificial chromosomes, and yeast artificial chromosomes was constructed and used for gene isolation experiments. Using the techniques of direct cDNA selection and genomic DNA sequencing, three known genes (ELN, LIMK1, and RFC2), a novel gene (WSCR1) with homology to RNA-binding proteins, a gene with homology to restin, and four other putative transcription units were identified. LIMK1 is a protein kinase with two repeats of the LIM/double zinc finger motif, and it is highly expressed in brain. RFC2 is the 40-kDa ATP- binding subunit of replication factor C, which is known to play a role in the elongation of DNA catalyzed by DNA polymerase δ and ε. LIMK1 and WSCR1 may be particularly relevant when explaining cognitive defects observed in WS patients.en_HK
dc.languageengen_HK
dc.publisherAcademic Press. The Journal's web site is located at http://www.elsevier.com/locate/ygenoen_HK
dc.relation.ispartofGenomicsen_HK
dc.subject.meshChromosome deletionen_HK
dc.subject.meshChromosomes, human, pair 7en_HK
dc.subject.meshIn situ hybridization, fluorescenceen_HK
dc.subject.meshLymphocytes - cytologyen_HK
dc.subject.meshWilliams syndrome - geneticsen_HK
dc.titleIdentification of genes from a 500-kb region at 7q11.23 that is commonly deleted in Williams syndrome patientsen_HK
dc.typeArticleen_HK
dc.identifier.openurlhttp://library.hku.hk:4550/resserv?sid=HKU:IR&issn=0888-7543&volume=36&issue=2&spage=328&epage=336&date=1996&atitle=Identification+of+genes+from+a+500-kb+region+at+7q11.23+that+is+commonly+deleted+in+Williams+syndrome+patientsen_HK
dc.identifier.emailTsui, LC: tsuilc@hkucc.hku.hken_HK
dc.identifier.authorityTsui, LC=rp00058en_HK
dc.description.naturelink_to_subscribed_fulltexten_HK
dc.identifier.doi10.1006/geno.1996.0469en_HK
dc.identifier.pmid8812460-
dc.identifier.scopuseid_2-s2.0-0030249984en_HK
dc.relation.referenceshttp://www.scopus.com/mlt/select.url?eid=2-s2.0-0030249984&selection=ref&src=s&origin=recordpageen_HK
dc.identifier.volume36en_HK
dc.identifier.issue2en_HK
dc.identifier.spage328en_HK
dc.identifier.epage336en_HK
dc.identifier.isiWOS:A1996VH18700013-
dc.publisher.placeUnited Statesen_HK
dc.identifier.scopusauthoridOsborne, LR=35369973100en_HK
dc.identifier.scopusauthoridMartindale, D=7003588061en_HK
dc.identifier.scopusauthoridScherer, SW=35374654500en_HK
dc.identifier.scopusauthoridShi, XM=7402953863en_HK
dc.identifier.scopusauthoridHuizenga, J=7005960086en_HK
dc.identifier.scopusauthoridHeng, HHQ=7005338076en_HK
dc.identifier.scopusauthoridCosta, T=7103357519en_HK
dc.identifier.scopusauthoridPober, B=7003518920en_HK
dc.identifier.scopusauthoridLew, L=6701502146en_HK
dc.identifier.scopusauthoridBrinkman, J=36828432900en_HK
dc.identifier.scopusauthoridRommens, J=7006884140en_HK
dc.identifier.scopusauthoridKoop, B=7006161280en_HK
dc.identifier.scopusauthoridTsui, LC=7102754167en_HK

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